ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828608977
Gene: NPC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1303422
ClinVar RCV Id:
RCV001757977
RCV002032783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362369.1:p.Pro88Ser
CA390532463
NM_001375440.1:c.262C>T